Incidental Mutation 'R4035:Ifi203'
ID |
313648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi203
|
Ensembl Gene |
ENSMUSG00000039997 |
Gene Name |
interferon activated gene 203 |
Synonyms |
|
MMRRC Submission |
041613-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R4035 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 173757040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042228]
[ENSMUST00000081216]
[ENSMUST00000111210]
[ENSMUST00000123708]
[ENSMUST00000129829]
[ENSMUST00000156895]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042228
|
SMART Domains |
Protein: ENSMUSP00000042071 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
Pfam:HIN
|
251 |
418 |
1.5e-77 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081216
|
SMART Domains |
Protein: ENSMUSP00000079976 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
Pfam:HIN
|
203 |
370 |
1.3e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111210
|
SMART Domains |
Protein: ENSMUSP00000106841 Gene: ENSMUSG00000090272
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
83 |
3.71e-20 |
SMART |
internal_repeat_1
|
152 |
166 |
2.38e-7 |
PROSPERO |
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
internal_repeat_1
|
208 |
222 |
2.38e-7 |
PROSPERO |
low complexity region
|
225 |
249 |
N/A |
INTRINSIC |
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
Pfam:HIN
|
311 |
479 |
3.4e-76 |
PFAM |
low complexity region
|
497 |
507 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123708
|
SMART Domains |
Protein: ENSMUSP00000121480 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
Pfam:HIN
|
203 |
370 |
1.3e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128430
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129829
AA Change: T248S
|
SMART Domains |
Protein: ENSMUSP00000122424 Gene: ENSMUSG00000039997 AA Change: T248S
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
Pfam:HIN
|
665 |
831 |
7.2e-73 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138143
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156895
|
SMART Domains |
Protein: ENSMUSP00000114221 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
Pfam:HIN
|
251 |
418 |
1.5e-77 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
G |
6: 124,333,879 (GRCm39) |
F34L |
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,216,233 (GRCm39) |
|
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,754 (GRCm39) |
S353P |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,835,541 (GRCm39) |
T52A |
probably benign |
Het |
Coro2b |
A |
G |
9: 62,333,071 (GRCm39) |
|
probably benign |
Het |
Ctcf |
A |
T |
8: 106,390,789 (GRCm39) |
E132V |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Cxcl2 |
A |
T |
5: 91,052,272 (GRCm39) |
Q87L |
possibly damaging |
Het |
Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,521,018 (GRCm39) |
V294I |
probably benign |
Het |
Fnip2 |
C |
T |
3: 79,386,808 (GRCm39) |
V973I |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,630,348 (GRCm39) |
T1286A |
probably benign |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Gsdme |
A |
T |
6: 50,206,428 (GRCm39) |
N138K |
possibly damaging |
Het |
Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
Henmt1 |
T |
C |
3: 108,866,001 (GRCm39) |
V199A |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,388,614 (GRCm39) |
N538D |
probably damaging |
Het |
Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Ndst4 |
C |
T |
3: 125,232,385 (GRCm39) |
T318M |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
Nolc1 |
GCA |
GCACCA |
19: 46,069,797 (GRCm39) |
|
probably benign |
Het |
Or6d12 |
A |
G |
6: 116,493,590 (GRCm39) |
N284S |
possibly damaging |
Het |
Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,898,334 (GRCm39) |
K97E |
probably damaging |
Het |
Pramel26 |
T |
A |
4: 143,537,026 (GRCm39) |
D435V |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,363,834 (GRCm39) |
M263K |
probably benign |
Het |
Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rttn |
T |
C |
18: 89,013,777 (GRCm39) |
V482A |
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,706,073 (GRCm39) |
M1T |
probably null |
Het |
Scel |
A |
G |
14: 103,767,440 (GRCm39) |
N33S |
probably damaging |
Het |
Sema4g |
A |
T |
19: 44,989,853 (GRCm39) |
Y644F |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,851,234 (GRCm39) |
T752M |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,431,551 (GRCm39) |
D281G |
probably damaging |
Het |
Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Tpgs1 |
A |
G |
10: 79,505,199 (GRCm39) |
|
probably null |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,740,165 (GRCm39) |
Q3458P |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,951,893 (GRCm39) |
F152L |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
T |
G |
3: 36,218,989 (GRCm39) |
H337Q |
possibly damaging |
Het |
|
Other mutations in Ifi203 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00565:Ifi203
|
APN |
1 |
173,765,306 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02598:Ifi203
|
APN |
1 |
173,762,568 (GRCm39) |
splice site |
probably benign |
|
IGL03172:Ifi203
|
APN |
1 |
173,764,158 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03334:Ifi203
|
APN |
1 |
173,765,401 (GRCm39) |
nonsense |
probably null |
|
FR4304:Ifi203
|
UTSW |
1 |
173,755,894 (GRCm39) |
intron |
probably benign |
|
R0593:Ifi203
|
UTSW |
1 |
173,756,215 (GRCm39) |
intron |
probably benign |
|
R0827:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
R1163:Ifi203
|
UTSW |
1 |
173,751,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R1769:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
R3415:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
R3737:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3738:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3739:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3791:Ifi203
|
UTSW |
1 |
173,762,646 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3847:Ifi203
|
UTSW |
1 |
173,761,362 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4156:Ifi203
|
UTSW |
1 |
173,764,106 (GRCm39) |
missense |
probably damaging |
0.98 |
R4164:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
R4171:Ifi203
|
UTSW |
1 |
173,761,341 (GRCm39) |
splice site |
probably benign |
|
R4200:Ifi203
|
UTSW |
1 |
173,751,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R4233:Ifi203
|
UTSW |
1 |
173,764,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4845:Ifi203
|
UTSW |
1 |
173,754,595 (GRCm39) |
missense |
probably benign |
0.00 |
R4880:Ifi203
|
UTSW |
1 |
173,756,716 (GRCm39) |
intron |
probably benign |
|
R5071:Ifi203
|
UTSW |
1 |
173,762,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5108:Ifi203
|
UTSW |
1 |
173,751,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Ifi203
|
UTSW |
1 |
173,756,274 (GRCm39) |
intron |
probably benign |
|
R5335:Ifi203
|
UTSW |
1 |
173,754,485 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6198:Ifi203
|
UTSW |
1 |
173,751,648 (GRCm39) |
missense |
probably damaging |
0.97 |
R6236:Ifi203
|
UTSW |
1 |
173,761,479 (GRCm39) |
missense |
probably benign |
0.33 |
R6397:Ifi203
|
UTSW |
1 |
173,754,770 (GRCm39) |
missense |
probably benign |
0.33 |
R6929:Ifi203
|
UTSW |
1 |
173,756,340 (GRCm39) |
intron |
probably benign |
|
R7025:Ifi203
|
UTSW |
1 |
173,755,951 (GRCm39) |
intron |
probably benign |
|
R7149:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
R7320:Ifi203
|
UTSW |
1 |
173,756,733 (GRCm39) |
missense |
unknown |
|
R7631:Ifi203
|
UTSW |
1 |
173,754,688 (GRCm39) |
missense |
unknown |
|
R7913:Ifi203
|
UTSW |
1 |
173,754,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Ifi203
|
UTSW |
1 |
173,756,266 (GRCm39) |
missense |
unknown |
|
R8297:Ifi203
|
UTSW |
1 |
173,765,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8537:Ifi203
|
UTSW |
1 |
173,756,472 (GRCm39) |
intron |
probably benign |
|
R8919:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
R8936:Ifi203
|
UTSW |
1 |
173,756,857 (GRCm39) |
intron |
probably benign |
|
R9081:Ifi203
|
UTSW |
1 |
173,757,048 (GRCm39) |
missense |
unknown |
|
R9223:Ifi203
|
UTSW |
1 |
173,765,437 (GRCm39) |
missense |
probably benign |
0.42 |
R9255:Ifi203
|
UTSW |
1 |
173,756,787 (GRCm39) |
missense |
unknown |
|
R9351:Ifi203
|
UTSW |
1 |
173,750,133 (GRCm39) |
missense |
probably benign |
0.33 |
R9397:Ifi203
|
UTSW |
1 |
173,765,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R9506:Ifi203
|
UTSW |
1 |
173,751,565 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9586:Ifi203
|
UTSW |
1 |
173,754,623 (GRCm39) |
nonsense |
probably null |
|
R9598:Ifi203
|
UTSW |
1 |
173,751,522 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ifi203
|
UTSW |
1 |
173,756,147 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACACTGGAAGATTGTGGC -3'
(R):5'- CTAAGTGGTAGCCTAAGTGTGG -3'
Sequencing Primer
(F):5'- TGATGTTGGAGAGATTGGAGACATC -3'
(R):5'- CTGACAGGATAAAAGTCCTC -3'
|
Posted On |
2015-04-30 |